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Article

Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature.

International journal of immunopathology and pharmacology - 1 Jun 2016

Ricci G, Ferrari S, Calamelli E, Ricci L, Neri I, Patrizi A

Abstract excerpt

Acrodermatitis enteropathic (AE) is a rare autosomal recessive disorder due to a zinc deficiency and characterized by a classical triad of symptoms: dermatitis, alopecia, and diarrhea. The defective gene is SLC39A4, which encodes a zinc transporter. Nevertheless many abnormalities in SLC39A4 have been relieved, only 50% of patients show alterations. Here is reported the case of an infant with mild and incomplete...

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Identifiers

PMID: 26684640
DOI: 10.1177/0394632015606845
PMCID: PMC5806715

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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